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Rare Disease Database

Search Results for: P

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Also known as: primary hypertrophic osteoarthropathy, pachydermoperiostosis syndrome, Rosenfeld-Kloepfer syndrome, Touraine-Solente-Gole syndrome, PHO

Pachyonychia Congenita

Also known as: PC
Subdivisions: PC-K6a (caused by mutations in KRT6A), PC-K6b (caused by mutations in KRT6B), PC-K6c (caused by mutations in KRT6C), PC-K16 (caused by mutations in KRT16), PC-K17 (caused by mutations in KRT17)

Pallister Killian Mosaic Syndrome

Also known as: chromosome 12, Isochromosome 12p syndrome, Killian syndrome, Killian Teschler-Nicola syndrome, Pallister mosaic syndrome, Teschler-Nicola Killian syndrome, PKS, isochromosome 12p syndrome, tetrasomy 12p, mosaic

Pallister-Hall Syndrome

Also known as: CAVE (cerebro-acro-visceral early lethality) complex, congenital hypothalamic hamartoblastoma syndrome, Hall-Pallister syndrome, PHS

Palmoplantar Pustulosis

Also known as: pustulosis palmaris et plantaris, PPP, localized pustular psoriasis (LPP), palmoplantar pustular psoriasis

Pancreatic Neuroendocrine Neoplasms (pNENs)

Also known as: pancreatic endocrine tumors, pancreatic islet cell tumors, pancreatic neuroendocrine tumors, pNET, islet cell carcinoma, islet cell tumors
Subdivisions: ACTHoma, calcitoninoma, gastrinoma, glucagonoma, GRFoma, insulinoma, PPHrPoma, Ppoma, somatostatinoma, VIPoma

Pantothenate Kinase-Associated Neurodegeneration

Also known as: Hallervorden-Spatz Syndrome, HARP, HSS, NBIA1, neurodegeneration with brain iron accumulation type 1, Pigmentary Degeneration of Globus Pallidus, Substantia Nigra, Red Nucleus, PKAN


Also known as: Lobo Disease, Lutz-Splendore-Almeida Disease, Paracoccidioidal Granuloma, PCM, South American Blastomycosis

Paramyotonia Congenita

Also known as: Eulenburg disease, paralysis periodica paramyotonica, paramyotonia congenita of von Eulenburg, PMC, Von Eulenburg's disease

Paroxysmal Cold Hemoglobinuria

Also known as: Donath-Landsteiner hemolytic anemia, Donath-Landsteiner syndrome, immune hemolytic anemia, paroxysmal cold, PCH

Parry Romberg Syndrome

Also known as: hemifacial atrophy (HFA), progressive facial hemiatrophy, progressive hemifacial atrophy, PRS, Romberg syndrome

Pars Planitis

Also known as: Intermediate Uveitis (UI), Peripheral Retinal Inflammation, PP, Vitritis

Parsonage Turner Syndrome

Also known as: acute brachial neuritis, brachial neuritis, brachial plexus neuritis, brachial plexus neuropathy, idiopathic brachial plexus neuropathy, neuralgic amyotrophy, PTS

Pediatric Cardiomyopathy

Subdivisions: arrhythmogenic right ventricular dysplasia (ARVD), dilated cardiomyopathy (DCM), hypertrophic cardiomyopathy (HCM), restrictive cardiomyopathy (RCM)

Peeling Skin Syndrome

Also known as: deciduous skin, familial continuous skin peeling, skin peeling syndrome, exfoliative ichthyosis, PSS
Subdivisions: generalized non-inflammatory type (PSS6, PSS5, PSS3), generalized inflammatory type (PSS1), localized (acral) type (PSS2, PSS4)

Pendred Syndrome

Also known as: PDS, deafness with goiter, goiter-deafness syndrome, autosomal recessive sensorineural hearing impairment, enlarged vestibular aqueduct, and goiter

Penta X Syndrome

Also known as: 49, XXXXX chromosome constitution, 49, XXXXX karyotype, 49, XXXXX syndrome, pentasomy X, XXXXX syndrome

PEPCK Deficiency

Also known as: phosphoenolpyruvate carboxykinase deficiency
Subdivisions: PEPCK1 deficiency, PEPCK2 deficiency

Perivascular Epithelioid Cell Neoplasm

Also known as: perivascular epithelioid tumor, PEComa
Subdivisions: angiomyolipoma (AML), clear cell sugar tumor of the lung (CCTL), primary extrapulmonary sugar tumor (PEST), lymphangioleiomyomatosis (LAM), clear cell myomelanocytic tumor (CCMT) of the falciform ligament/ligamentum teres, primary cutaneous PEComa (CCCMT-cutaneous clear cell myomelanocytic tumor), primary cutaneous PEComa (CCCMT-cutaneous clear cell myomelanocytic tumor)


Also known as: chilblains, cold induced vascular disease, erythema, pernio, pernio

Perrault Syndrome

Also known as: gonadal dysgenesis, XX type, with deafness, ovarian dysgenesis with sensorineural deafness, gonadal dysgenesis, XX type

Pfeiffer Syndrome

Also known as: acrocephalosyndactyly, type V, ACSV, craniofacial-skeletal-dermatologic syndrome, Noack syndrome
Subdivisions: Pfeiffer syndrome type I, Pfeiffer syndrome type II, Pfeiffer syndrome type III

PHACE Syndrome

Also known as: Pascual-Castroviejo type II syndrome, PHACE association, PHACES association, PHACES syndrome


Also known as: classical phenylketonuria, hyperphenylalanemia, phenylalanine hydroxylase deficiency, phenylalaninemia, PKU


Also known as: adrenal paraganglioma, chromaffin cell tumor, adrenal gland chromaffin paraganglioma, adrenal gland paraganglioma, intraadrenal paraganglioma, chromaffin paraganglioma of the adrenal gland, adrenal gland pheochromocytoma, glomus tumors, extra-adrenal paraganglioma, extra-adrenal pheochromocytoma

PIK3CA-Related Overgrowth Spectrum

Also known as: PROS
Subdivisions: CLAPO syndrome, CLOVES syndrome, diffuse capillary malformation with overgrowth (DCMO), dysplastic megalencephaly (DMEG), fibroadipose hyperplasia (FAH)/fibroadipose overgrowth (FAO)/hemihyperplasia-multiple lipomatosis syndrome (HHML), fibroadipose vascular anomaly (FAVA), facial infiltrating lipomatosis (FIL), hemimegalencephaly (HMEG), Klippel-Trenaunay syndrome (KTS), lipomatosis of nerve (LON), macrodactyly, megalencephaly-capillary malformation syndrome (MCAP syndrome), muscular hemihyperplasia (HH)


Also known as: Azul, Carate, Empeines, Lota, Mal del Pinto, Tina

Pityriasis Rubra Pilaris

Also known as: Devergie disease, lichen ruber acuminatus, PRP, lichen acuminatus, pityriasis rubra pilaire (Fr.), lichen ruber pilaris
Subdivisions: type 1 — classical adult onset, type 2 — atypical adult onset, type 3 — classical juvenile onset, type 4 — circumscribed juvenile onset, type 5 — atypical juvenile onset, type 6 — HIV-associated

PLA2G6-Associated Neurodegeneration

Also known as: PLAN, neurodegeneration with brain iron accumulation 2A (NBIA2A), infantile neuroanonal dystrophy (INAD), formerly, Seitelberger disease, Karak syndrome
Subdivisions: infantile neuroaxonal dystrophy (INAD), aNAD (atypical or juvenile neuroaxonal dystrophy), PLA2G6-related dystonia-parkinsonism


Also known as: Black Death, La Peste, pestilential fever
Subdivisions: bubonic plague, pneumonic plague, septicemic plague

Pleuropulmonary Blastoma

Also known as: cystic mesenchymal hamartoma, mesenchymal cystic hamartoma, pneumoblastoma, PPB, pulmonary rhabdomyosarcoma, rhabdomyosarcoma in lung cyst, CPAM/CCAM type 4
Subdivisions: type Ir PPB, type I PPB, type II PPB, type III PPB


Also known as: carbohydrate-deficient glycoprotein syndrome, type Ia, CDG1A, CDGS Type Ia, congenital disorder of glycosylation type Ia, Jaeken syndrome
Subdivisions: No subdivisions found

Pneumocystis Pneumonia

Also known as: pneumocystis jirovecii pneumonia , PJP, PCP, PCP pneumonia, pneumocystic carini pneumonia

POEMS Syndrome

Also known as: Crow-Fukase syndrome, osteosclerotic myeloma, polyneuropathy, organomegaly, endocrinopathy, m-protein and skin changes syndrome , Takatsuki syndrome

Poland Syndrome

Also known as: Poland Anomaly, Poland Sequence, Poland Syndactyly, Unilateral Defect of Pectoralis Muscle and Syndactyly of the Hand

Polyarteritis Nodosa

Also known as: PAN, Periarteritis, Periarteritis nodosa, Polyarteritis, Polyarteritis nodosa

Polycystic Liver Disease

Also known as: isolated polycystic liver disease, autosomal dominant polycystic liver disease (ADPLD), PCLD, PLD

Polycythemia Vera

Also known as: erythremia, Osler-Vaquez disease, polycythemia rubra vera, primary polycythemia, splenomegalic polycythemia, Vaquez-Osler disease

Polymorphous Low-Grade Adenocarcinoma

Also known as: Lobular Carcinoma of the Minor Salivary Glands, Low-Grade Papillary Carcinoma of the Palate, Pleomorphic Adenoma, PLGA, Terminal Duct Carcinoma

Pompe Disease

Also known as: glycogen storage disease type II (GSD II), acid maltase deficiency (AMD), acid alpha-glucosidase (GAA) deficiency

Pontocerebellar Hypoplasia

Also known as: arginyl-tRNA synthetase 2 (RARS2), cerebellar atrophy with progressive microcephaly, (CLAM), encephalopathy, fatal infantile, with olivopontocerebellar hyperplasia, fetal-onset olivopontocerebellar hypoplasia, olivopontocerebellar hypoplasia, fetal-onset, PCH with optic atrophy, pontocerebellar hypoplasia, type 1 (PCH1), pontocerebellar hypoplasia, type 2A (PCH2A), pontocerebellar hypoplasia, type 2B (PCH2B), pontocerebellar hypoplasia, type 2C (PCH2C), pontocerebellar hypoplasia, type 3 (PCH3), pontocerebellar hypoplasia, type 4 (PCH4), pontocerebellar hypoplasia, type 5 (PCH 5), pontocerebellar hypoplasia, type 6 (PCH6), pontocerebellar hypoplasia with anterior horn cell disease, pontocerebellar hypoplasia with infantile spinal muscular atrophy, pontocerebellar hypoplasia with progressive cerebral atrophy, volendam neurodegenerative disease


Subdivisions: Acute Intermittent Porphyria, ALA-D Porphyria, Congenital Erythropoietic Porphyria, Hereditary Coproporphyria, Porphyria Cutanea Tarda, Protoporphyria, Variegate Porphyria

Porphyria Cutanea Tarda

Also known as: UROD deficiency, uroporphyrinogen decarboxylase deficiency
Subdivisions: familial porphyria cutanea tarda (PCT type 2), sporadic porphyria cutanea tarda (PCT type 1)

Post Polio Syndrome

Also known as: Polio, Late Effects, Post-Polio Muscular Atrophy, Postpoliomyelitis syndrome, Post-Polio Sequelae

Precocious Puberty

Also known as: pubertas praecox, sexual precocity
Subdivisions: central precocious puberty (CPP), gonadotropin-dependent precocious puberty, gonadotropin-independent precocious puberty, heterosexual precocious puberty, idiopathic precocious puberty, isosexual precocious puberty, male-limited precocious puberty, peripheral precocious puberty

Primary Distal Renal Tubular Acidosis

Also known as: dRTA, familial distal primary renal acidosis, renal tubular acidosis type 1
Subdivisions: ATP6V1B1-associated distal renal tubular acidosis, ATP6V0A4-associated distal renal tubular acidosis, SLC4A1-associated distal renal tubular acidosis

Primary Gastric Lymphoma

Also known as: non-Hodgkin gastric lymphoma, primary Hodgkin's lymphoma of the stomach, stomach lymphoma, non-Hodgkins type
Subdivisions: diffuse large B-cell lymphoma (DLBCL) of the stomach, mucosa-associated lymphoid tissue (MALT) gastric lymphoma

Primary Hyperoxaluria

Also known as: oxalosis, PH
Subdivisions: primary hyperoxaluria type III (PH III), primary hyperoxaluria type II (PH II), primary hyperoxaluria type I (PH I)

Primary Myelofibrosis

Also known as: agnogenic myeloid metaplasia (AMM), chronic idiopathic myelofibrosis (CIMF), idiopathic myelofibrosis, IM, myelofibrosis with myeloid metaplasia, PMF

Primary Visual Agnosia

Also known as: agnosis, primary, apperceptive agnosia, associative agnosia, monomodal visual amnesia, visual amnesia
Subdivisions: No subdivisions found


Also known as: Antibiotic-Induced Proctitis, Gonorrheal Proctitis, Herpetic Proctitis, Ischemic Proctitis, Radiation Proctitis, Syphilitic Proctitis

Progressive Myoclonus Epilepsy

Also known as: Epilepsy, Myoclonic Progressive Familial, Myoclonic Epilepsy, Myoclonic Progressive Familial Epilepsy, Myoclonus Epilepsy, Progressive Familial Myoclonic Epilepsy
Subdivisions: Baltic Myoclonus Epilepsy, Lafora Body Disease, Lafora Disease, Included, Lundborg-Unverricht Disease, Included, Myoclonic Epilepsy, Hartung Type, Unverricht Disease, Unverricht-Lundborg Disease


Also known as: amenorrhea-galactorrhea, nonpuerperal, Forbes-Albright syndrome, galactorrhea-amenorrhea syndrome, nonpuerperal galactorrhea

Propionic Acidemia

Also known as: propionyl-CoA carboxylase deficiency, PCC deficiency, PA, PCCA-related propionic acidemia, PCCB-related propionic acidemia
Subdivisions: neonatal-onset PA, late-onset PA

Protein C Deficiency

Also known as: Hereditary thrombophilia due to protein C deficiency, PROC deficiency
Subdivisions: autosomal dominant protein C deficiency, autosomal recessive protein C deficiency

Prune Belly Syndrome

Also known as: Abdominal Muscle Deficiency Syndrome, Congenital Absence of the Abdominal Muscles, Deficiency of abdominal musculature, Eagle-Barrett Syndrome, Obrinsky Syndrome, Triad syndrome

Prurigo Nodularis

Also known as: prurigo nodularis of Hyde, nodular prurigo, Picker's nodules , atypical nodular form of neurodermatitis circumscripta, lichen corneus obtusus, PN

Pseudocholinesterase Deficiency

Also known as: Apnea, Postanesthetic, Butyrylcholinesterase, Cholinesterase II Deficiency, Pseudocholinesterase E1, Succinylcholine Sensitivity, Suxamethonium Sensitivity

Pseudomyxoma Peritonei

Also known as: low grade appendiceal mucinous neoplasm (LAMN), colloid carcinoma, disseminated peritoneal adenomucinosis (DPAM), malignant appendiceal tumor, malignant large bowel cystadenocarcinoma, malignant large bowel peritoneal carcinomatosis, malignant large bowel tumor, mucinous cyst adenocarcinoma, mucinous cystadenoma, peritoneal carcinomatosis, peritoneal mucinous carcinomatosis (PMCA), PMP, pseudomyxoma ovarii

PTEN Hamartoma Tumor Syndrome

Also known as: PHTS
Subdivisions: Bannayan-Riley-Ruvalcaba syndrome, Cowden syndrome, multiple hamartoma syndrome, proteus-like syndrome

Pulmonary Alveolar Proteinosis

Also known as: PAP, pulmonary alveolar lipoproteinosis, phospholipidosis
Subdivisions: primary PAP (autoimmune PAP, hereditary PAP), secondary PAP (multiple diseases), congenital PAP (multiple diseases, usually genetic)

Pulmonary Arterial Hypertension

Also known as: FPAH, HPAH, idiopathic pulmonary arterial hypertension, IPAH, PAH, precapillary pulmonary hypertension, primary obliterative pulmonary vascular disease, primary pulmonary hypertension, associated pulmonary arterial hypertension, APAH
Subdivisions: heritable pulmonary arterial hypertension (HPAH), idiopathic pulmonary arterial hypertension (IPAH), associated pulmonary arterial hypertension (APAH)

Pyruvate Carboxylase Deficiency

Also known as: ataxia with lactic acidosis, type II, PC deficiency
Subdivisions: pyruvate carboxylase deficiency type A, pyruvate carboxylase deficiency type B , pyruvate carboxylase deficiency type C

Pyruvate Dehydrogenase Complex Deficiency

Also known as: intermittent ataxia with pyruvate dehydrogenase deficiency, lactic and pyruvate acidemia with carbohydrate sensitivity, lactic and pyruvate acidemia with episodic ataxia and weakness, PDH deficiency